NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp) AND Oocyte maturation defect 2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 31, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001255442.1

Allele description [Variation Report for NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp)]

NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp)

Gene:

TUBB8:tubulin beta 8 class VIII [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p15.3

Genomic location:

Preferred name:

NM_177987.3(TUBB8):c.1178C>A (p.Ala393Asp)

HGVS:

NC_000010.11:g.47214G>T
NG_046777.1:g.34242C>A
NM_177987.3:c.1178C>AMANE SELECT
NP_817124.1:p.Ala393Asp
NC_000010.10:g.93154G>T

Protein change:

A393D

Links:

dbSNP: rs1834349710

NCBI 1000 Genomes Browser:

rs1834349710

Molecular consequence:

NM_177987.3:c.1178C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Oocyte maturation defect 2 (OZEMA2)
Synonyms:: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 2
Identifiers:: MONDO: MONDO:0021573; MedGen: C4225210; OMIM: 616780

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001431846	Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University	no assertion criteria provided	Likely pathogenic (Aug 31, 2020)	paternal	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001431846

Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University

no assertion criteria provided

Likely pathogenic
(Aug 31, 2020)

paternal

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	paternal	yes	not provided	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, SCV001431846.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	case-control	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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